Francois Cartault

Saint-denis-de-palin, France

Last Updated: 09/26/2026

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Found 17 publications

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

Journal: Clinical genetics

Published: May 21, 2026

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

Journal: American journal of medical genetics. Part A

Published: May 16, 2022

Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect.

Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect.

Journal: The British journal of dermatology

Published: April 25, 2019

How history and geography may explain the distribution in the Comorian archipelago of a novel mutation in DNA repair-deficient xeroderma pigmentosum patients.

How history and geography may explain the distribution in the Comorian archipelago of a novel mutation in DNA repair-deficient xeroderma pigmentosum patients.

Journal: Genetics and molecular biology

Published: February 15, 2019

High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.

High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.

Journal: Clinical genetics

Published: August 30, 2018

Skin cancers in patients of skin phototype V or VI with xeroderma pigmentosum type C (XP-C): A retrospective study.

Skin cancers in patients of skin phototype V or VI with xeroderma pigmentosum type C (XP-C): A retrospective study.

Journal: Annales de dermatologie et de venereologie

Published: April 12, 2018

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.

Journal: European journal of human genetics : EJHG

Published: April 13, 2015

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

Journal: Human molecular genetics

Published: April 02, 2015

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

Journal: European journal of human genetics : EJHG

Published: January 30, 2015

Antenatal presentation of hereditary lymphedema type I.

Antenatal presentation of hereditary lymphedema type I.

Journal: European journal of medical genetics

Published: January 26, 2015

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.

Journal: American journal of human genetics

Published: November 23, 2014

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Journal: Human molecular genetics

Published: April 10, 2014

Showing 1-12 of 17

Last Updated: 09/26/2026